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MTHFR 3′-untranslated region polymorphisms contribute to recurrent pregnancy loss risk and alterations in peripheral natural killer cell proportions

Kim ES, Kim JO, An HJ, Sakong JH, Lee HA, Kim JH, Ahn EH, Kim YR, Lee WS, Kim NK

OBJECTIVE: To identify the associations between polymorphisms of the 3′-untranslated region (UTR) of methylenetetrahydrofolate reductase (MTHFR) gene, which codes for an important regulatory enzyme primarily involved in folate metabolism, and...
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A Rare Case of Cerebral Sinovenous Thrombosis Associated with MTHFR A1298C and C677T Mutations

Kim SH, Lee NM, Chae SA

Neonatal cerebral sinovenous thrombosis (CSVT) is a rare disease with severe neurological sequelae. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the folate cycle, and mutations in MTHFR are associated...
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Intracardiac Thrombosis Involving All Four Cardiac Chambers after Extracardiac Membranous Oxygenation Associated with MTHFR Mutations

Kim BJ, Song SH, Shin YR, Park HK, Park YH, Shin HJ

A 4-month-old boy diagnosed with acute myocarditis was treated with extracorporeal membrane oxygenation (ECMO). Follow-up echocardiography eight hours after ECMO revealed intracardiac thrombosis involving all four heart chambers. Because of...
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Role of Hyperhomocysteinemia and Methylene Tetrahydrofolate Reductase C677T Polymorphism in Idiopathic Portal Vein Thrombosis

Ghaznavi H, Soheili Z, Samiei S, Soltanpour MS

PURPOSE: Portal vein thrombosis (PVT) is a rare and life-threatening vascular disorder characterized by obstruction or narrowing of the portal vein. Hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism has been...
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Association of Methylenetetrahydrofolate Reductase C677T Polymorphism with Hyperhomocysteinemia and Deep Vein Thrombosis in the Iranian Population

Ghaznavi H, Soheili Z, Samiei S, Soltanpour MS

PURPOSE: Deep venous thrombosis (DVT) is a common but elusive condition characterized by a high morbidity and mortality rate. The aim of the present study was to investigate the correlation...
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Clinical Implications of Methylenetetrahydrofolate Reductase Mutations and Plasma Homocysteine Levels in Patients with Thromboembolic Occlusion

Park WC, Chang JH

PURPOSE: Hyperhomocysteinemia has been identified as an independent risk factor in arterial and venous thrombosis. Mutations in genes encoding methylenetetrahydrofolate reductase (MTHFR), involved in the metabolism of homocysteine, may account...
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Small Bowel Infarction by Mesenteric Venous Thrombosis due to Methylenetetrahydrofolate Reductase Gene Mutation

Park IY, Do BJ, Ahn JS, Lee JH, Park JH, Kang JG, Yang BK, Kim HS

Acute mesenteric venous thrombosis (MVT) is an uncommon form of intestinal ischemia with high mortality and usually occurs in the setting of preexisting comorbidities including thrombophilia and abdominal inflammatory conditions....
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Association between Methylenetetrahydrofolate Reductase C677T Polymorphism and Bone Mineral Density: The Dong-gu Study and the Namwon Study

Shin MH, Choi JS, Rhee JA, Lee YH, Nam HS, Jeong SK, Park KS, Kim HY, Ryu SY, Choi SW, Song HR, Kim HN, Cauley JA, Kweon SS

The purpose of this study was to examine the association between the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and bone mineral density (BMD). Two large cohort studies were performed: the Dong-gu...
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Association Study between Folate Pathway Gene Single Nucleotide Polymorphisms and Gastric Cancer in Koreans

Yoo JY, Kim SY, Hwang JA, Hong SH, Shin A, Choi IJ, Lee YS

Gastric cancer is ranked as the most common cancer in Koreans. A recent molecular biological study about the folate pathway gene revealed the correlation with a couple of cancer types....
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The role of methylenetetrahydrofolate reductase C677T polymorphism on the peripheral blood natural killer cell proportion in women with unexplained recurrent miscarriages

Park CW, Han AR, Kwak-Kim J, Park SY, Han JY, Koong MK, Song IO, Yang KM

OBJECTIVE: To examine the association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and hyperhomocysteinemia in women with unexplained recurrent miscarriages (RM) and to investigate the association between MTHFR genotype variants and...
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Polymorphisms of methylenetetrahydrofolate reductase are not a risk factor for Kawasaki disease in the Korean population

Yoon KL, Ko JH, Shim KS, Han MY, Cha SH, Kim SK, Jung JH

PURPOSE: Hyperhomocysteinemia is known as a risk factor for atherosclerosis. Preclinical arteriosclerosis is noted and premature atherosclerosis is known to be accelerated in Kawasaki disease (KD) patients. Genetic polymorphisms in...
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MTHFR C677T Polymorphism as a Risk Factor for Vascular Calcification in Chronic Hemodialysis Patients

Lee SY, Kim HY, Park KM, Lee SY, Hong SG, Kim HJ, Yang DH

Polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T is one of the suggested risk factors for atherosclerosis. However, few studies have reported on the relationship between MTHFR C677T polymorphism and vascular calcification...
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No Association of Functional Polymorphisms in Methlylenetetrahydrofolate Reductase and the Risk and Minor Physical Anomalies of Schizophrenia in Korean Population

Kim SG, Song JY, Joo EJ, Jeong SH, Kim SH, Lee KY, Lee NY, Ahn YM, Kim YS, Roh MS

Methylenetetrahydrofolate reductase (MTHFR), a critical enzyme in folate metabolism, plays an important role in DNA methylation. It has been suggested that abnormal DNA methylation contributes to the pathogenesis of schizophrenia...
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Gastric Cancer Susceptibility according to Methylenetetrahydrofolate Reductase and Thymidylate Synthase Gene Polymorphism

Jung H, Lee JI, Lee HH, Kim SH, Hur H, Jeon HM

PURPOSE: The genetic polymorphism and intracellular activity of methylenetetrahydrofolate reductase (MTHFR) and thymidylate synthase (TS) is clinically associated with carcinogenesis and biological therapeutic effect in gastrointestinal malignancies. We aimed to...
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Association of Methylenetetrahydrofolate Reductase (MTHFR 677C>T and 1298A>C) Polymorphisms and Haplotypes with Silent Brain Infarction and Homocysteine Levels in a Korean Population

Han IB, Kim OJ, Ahn JY, Oh D, Hong SP, Huh R, Chung SS, Kim NK

PURPOSE: Methylenetetrahydrofolate reductase (MTHFR) is the main regulatory enzyme for homocysteine metabolism. In the present study, we evaluated whether the MTHFR 677C>T and 1298A>C gene polymorphisms are associated with SBI...
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No Association Between Functional Polymorphisms in COMT and MTHFR and Schizophrenia Risk in Korean Population

Kang HJ, Choe BM, Kim SH, Son SR, Lee KM, Kim BG, Hong YS

  • KMID: 2380523
  • Epidemiol Health.
  • 2010;32:e2010011.
OBJECTIVES: Common genetic SNPs in two genes, encoding catechol-O-methyltransferase (COMT) and methylenetetrahydrofolate reductase (MTHFR), which are interconnected with COMT gene regulation, have been reported to contribute to schizophrenia risk. In...
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The Relationship between the Methylenetetrahydrofolate Reductase Genotypes and the Methylation Status of the CpG Island Loci, LINE-1 and Alu in Prostate Adenocarcinoma

Kim JH, Cho NY, Kim BH, Kim WY, Kim BS, Moon KC, Kang GH

BACKGROUND: Genetic polymorphism of methylenetetrahydrofolate reductase (MTHFR), in association with the influence of MTHFR upon DNA methylation, may cause differences of the methylation profile of cancer. Thus, we investigated the...
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Methylenetetrahydrofolate Reductase Gene C677T Mutation and Apolipoprotein E Gene Mutation in Recurrent Aphthous Stomatitis

Baek JO, Kim M, Im JS, Youn ST, Roh JY

  • KMID: 2302107
  • Korean J Dermatol.
  • 2008 Feb;46(2):209-215.
BACKGROUND: Recurrent aphthous stomatitis (RAS) is usually the earliest sign of Behcet's disease. Hyperhomocysteinemia can damage endothelial cells and progress to obstructive vascular disease. It has been reported that hyperhomocysteinemia...
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Methylenetetrahydrofolate Reductase Gene Single Nucleotide Polymorphism in Korean Population with Ischemic Stroke

Kim IG, Kim JT, Kim MK

  • KMID: 2048742
  • Chonnam Med J.
  • 2007 Apr;43(1):25-32.
The identification of novel markers of stroke risk is of key importance, both for risk prediction and potential modification to reduce future events. Recently, a mutation (C677T) in the methylenetetrahydrofolate...
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Influence of Combined Methionine Synthase (MTR 2756A > G) and Methylenetetrahydrofolate Reductase (MTHFR 677C > T) Polymorphisms to Plasma Homocysteine Levels in Korean Patients with Ischemic Stroke

Kim OJ, Hong SP, Ahn JY, Hong SH, Hwang TS, Kim SO, Yoo W, Oh D, Kim NK

PURPOSE: Methionine synthase (MTR) and 5,10-methylenetetrahydrofolate reductase (MTHFR) are the main regulatory enzymes for homocysteine metabolism. The present case- control study was conducted to determine whether there is an association...
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